ClinVar Miner

List of variants in gene CACNA2D1 reported as benign for Cardiovascular phenotype

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=) rs1229502 0.25231
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=) rs2229952 0.03521
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=) rs37133 0.02238
NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=) rs73151504 0.00692
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713 0.00067
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00044
NM_000722.4(CACNA2D1):c.2464-4T>G rs752369061 0.00003
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12dup rs3083235
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.355-5del rs142849270

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